Chediaka-Higasi Syndrome

Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by partial or complete albinism, recurrent bacterial infections, and the presence of giant granules in the cytoplasm of granulocytes and other cells.

The disease was first described in 1954 by the Cuban physician Chediak and the Japanese physician Higashi. The cause of the syndrome is mutations in genes encoding proteins involved in the formation of the cytoskeleton and the transport of intracellular vesicles. This leads to disruption of vesicular transport in cells and the formation of giant granules.

Main clinical manifestations: partial or complete albinism, immunodeficiency, recurrent bacterial infections, delayed psychomotor development. Diagnosis is based on the detection of giant granules in white blood cells.

Treatment is mainly symptomatic - antibiotics, immunoglobulin replacement therapy. The prognosis depends on the severity of the immunodeficiency. In severe cases, early death from infections is possible.

Unfortunately, I cannot write an article, but I can help you find information for it. Chediak Higashi syndrome (CDH) is a rare genetic disorder characterized by dark brown and rapidly keratinizing skin color, dark brown or amber eyes and excessive pigmentation of the iris, dilated pupils (mydriasis), thyroid disorders and a high risk of developing cataracts. You can see what SDH looks like in children in the photo.

Despite the fact that the exact etiology of Chediak-Higashi syndrome is not completely clear, studies have revealed damage to the genes responsible for the synthesis of melanin (mainly the ATP7A gene) and other proteins involved in the structure and functioning of mitochondria (DLC1, ATP7B and ATP5L genes). The disease is inherited in an autosomal recessive manner. Chediac-Ledd syndrome has a high risk of developing infections. Children with this condition often suffer from lung disease and bacterial infections in the mouth. Many parents face problems in the form of respiratory diseases, gastroesophageal reflux and bronchial asthma. DHS is a genetic disorder that is rarely passed from parents to children. But if some genes mutate and/or are passed from one parent to another, then the frequency of occurrence can greatly increase. In Japan, the incidence of Chediak-Higashi syndrome is 0.1 in 10 thousand people. Currently, the world knows of tens of thousands of carriers of this gene and hundreds of families with a diagnosed diagnosis. Manifestations can range from mild hyperpigmentation to severe forms of phototoxicity, metachromatic spots, thinning and brittle hair. Recent research has allowed scientists to classify this genome defect as one of the most common throughout the world. True, this applies mainly not to severe forms of the disease, but to their softened or unexpressed varieties. Such people have a fairly high risk of developing various diseases, including cancer.